(Q45344206)

13 December 2017

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism (English)

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13 December 2017

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Hugo Gutiérrez de Terán

5

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13 December 2017

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9

Joanna C Jen

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13 December 2017

Patricia Blanco-Arias

1

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13 December 2017

Anja P Einholm

2

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13 December 2017

Hafsa Mamsa

3

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13 December 2017

Carla Concheiro

4

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13 December 2017

Jesús Romero

6

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13 December 2017

Mads S Toustrup-Jensen

7

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13 December 2017

Angel Carracedo

8

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13 December 2017

Bente Vilsen

10

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13 December 2017

María-Jesús Sobrido

11

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13 December 2017

7 April 2009

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13 December 2017

Human Molecular Genetics

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13 December 2017

18

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13 December 2017

13

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13 December 2017

2370-2377

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Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

13 December 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Crystal structure of the sodium–potassium pump

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Homology modeling of the cation binding sites of Na+K+-ATPase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

The Na,K-ATPase alpha 2 isoform is expressed in neurons, and its absence disrupts neuronal activity in newborn mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

PET imaging of the pre-synaptic dopamine uptake sites in rapid-onset dystonia-parkinsonism (RDP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Spontaneous pallidal neuronal activity in human dystonia: comparison with Parkinson's disease and normal macaque

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Neuronal firing rates and patterns in the globus pallidus internus of patients with cervical dystonia differ from those with Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

The pathophysiology of primary dystonia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

The paroxysmal dyskinesias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

New family with paroxysmal exercise-induced dystonia and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Prolonged hemiplegic episodes in children due to mutations in ATP1A2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Comparative protein modelling by satisfaction of spatial restraints

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Crystal structure of the calcium pump with a bound ATP analogue

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Multiple protein sequence alignment from tertiary structure comparison: assignment of global and residue confidence levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

Rapid-onset dystonia-parkinsonism: A clinical and genetic analysis of a new kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP170

21 January 2018

Identifiers

DOI

10.1093/HMG/DDP170

1 reference

13 December 2017

1 reference